Linked Data
ClinVar Variation Id:
1542221
ClinVar RCV Id:
RCV002164997
dbSNP Id:
rs760219472
ExAC:
13:40293938 A / C
gnomAD v2:
13-40293938-A-C
gnomAD v4:
13-39719801-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.39719801A>C , CM000675.2:g.39719801A>C | GRCh38 |
| NC_000013.10:g.40293938A>C , CM000675.1:g.40293938A>C | GRCh37 |
| NC_000013.9:g.39191938A>C | NCBI36 |
| NG_028352.1:g.69175A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000455146.8:c.1558A>C MANE Select | ENSP00000397441.2:p.Arg520= | |
| ENST00000356576.8:c.*1395A>C | ENSP00000348983.4:n.*1395A>C | |
| ENST00000416691.5:c.1558A>C | ENSP00000403733.1:p.Arg520= | |
| ENST00000455146.7:c.1558A>C | ENSP00000397441.2:p.Arg520= | |
| NM_001145079.1:c.1558A>C | NP_001138551.1:p.Arg520= | |
| NM_020751.2:c.1558A>C | NP_065802.1:p.Arg520= | |
| NR_026745.1:n.1723A>C | ||
| XM_011535168.1:c.1558A>C | XP_011533470.1:p.Arg520= | |
| XM_011535169.1:c.1402A>C | XP_011533471.1:p.Arg468= | |
| XM_011535170.1:c.1402A>C | XP_011533472.1:p.Arg468= | |
| NM_020751.3:c.1558A>C MANE Select | NP_065802.1:p.Arg520= | |
| NM_001145079.2:c.1558A>C | NP_001138551.1:p.Arg520= |